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Article

[Identification of ATXN3 intermedial allele associated with a disease phenotype in an SCA3 Han Chinese family].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Apr 2010

Yu Jia, Ma Jian-hua, Zhang Xiao-ning, Lei Jing

Abstract excerpt

OBJECTIVE: To investigate the clinical manifestation and the mutation characteristics of intermedial allele associated with a disease phenotype of a Machado-Joseph disease (MJD) family. METHODS: Polymerase chain reaction, capillary electrophoresis, molecular cloning and sequencing were performed to detect the ATXN3 gene in an spinocerebellar ataxia(SCA) family. The fragments of expanded alleles were subcloned...

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Source

Identifiers

PMID: 20376803
DOI: 10.3760/cma.j.issn.1003-9406.2010.02.016

Genes

ATXN3

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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